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Variant : CV799789 (NM_001013703.4(EIF2AK4):c.1660+12A>T) Homo sapiens

Symbol: CV799789
Name: NM_001013703.4(EIF2AK4):c.1660+12A>T
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001000498]
Clinical Significance: benign
Last Evaluated: 12/18/2018
Review Status: criteria provided, single submitter
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.40265227A>T
NM_001013703.4:c.1660+12A>T
NG_034053.1:g.43903A>T
NC_000015.10:g.39973026A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,973,026 - 39,973,026CLINVAR
GRCh371540,265,227 - 40,265,227CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; Pulmonary venoocclusive disease 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 21405448
Created: 2020-03-10
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.